HUMAN:ASXL1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	ASXL1 (synonyms: KIAA0978)
Protein Name(s)	Putative Polycomb group protein ASXL1 Additional sex combs-like protein 1
External Links
UniProt	Q8IXJ9
EMBL	AJ438952 AL121583 AL034550 AL034550 AL121583 BC033284 BC137278 BC137280 AB023195 AL117518 AL117647
CCDS	CCDS13201.1
PIR	T17285 T17339
RefSeq	NP_056153.2
UniGene	Hs.374043
ProteinModelPortal	Q8IXJ9
BioGrid	128104
DIP	DIP-46910N
IntAct	Q8IXJ9
MINT	MINT-7034503
PhosphoSite	Q8IXJ9
DMDM	317373477
MaxQB	Q8IXJ9
PaxDb	Q8IXJ9
PRIDE	Q8IXJ9
Ensembl	ENST00000375687 ENST00000613218 ENST00000620121
GeneID	171023
KEGG	hsa:171023
UCSC	uc002wxs.3
CTD	171023
GeneCards	GC20P030946
HGNC	HGNC:18318
MIM	605039 612990 614286
neXtProt	NX_Q8IXJ9
Orphanet	97297
PharmGKB	PA25078
eggNOG	NOG81527
GeneTree	ENSGT00520000055578
HOVERGEN	HBG050598
InParanoid	Q8IXJ9
KO	K11471
OMA	SLKAMIM
PhylomeDB	Q8IXJ9
TreeFam	TF328464
ChiTaRS	ASXL1
GeneWiki	ASXL1
GenomeRNAi	171023
NextBio	89192
PRO	PR:Q8IXJ9
Proteomes	UP000005640
Bgee	Q8IXJ9
CleanEx	HS_ASXL1
ExpressionAtlas	Q8IXJ9
Genevestigator	Q8IXJ9
GO	GO:0070062 GO:0000790 GO:0035517 GO:0003677 GO:0046872 GO:0042975 GO:0042974 GO:0003713 GO:0003714 GO:0060348 GO:0035522 GO:0045599 GO:0035359 GO:0048387 GO:0000122 GO:0048386 GO:0045944 GO:0032526 GO:0006351
InterPro	IPR026905 IPR024811 IPR028020 IPR024815 IPR007759
PANTHER	PTHR13578 PTHR13578:SF19
Pfam	PF13919 PF05066 PF13922

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0048386	positive regulation of retinoic acid receptor signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	P	Seeded From UniProt	complete
involved_in	GO:0045599	negative regulation of fat cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	P	Seeded From UniProt	complete
enables	GO:0042975	peroxisome proliferator activated receptor binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	F	Seeded From UniProt	complete
enables	GO:0042974	retinoic acid receptor binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	F	Seeded From UniProt	complete
involved_in	GO:0035522	monoubiquitinated histone H2A deubiquitination	PMID:20436459^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0035517	PR-DUB complex	PMID:20436459^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	P	Seeded From UniProt	complete
involved_in	GO:0032526	response to retinoic acid	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	P	Seeded From UniProt	complete
enables	GO:0003713	transcription coactivator activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P59598	F	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2684063 PANTHER:PTN000339786 UniProtKB:Q76L83	P	Seeded From UniProt	complete
enables	GO:0042975	peroxisome proliferator activated receptor binding	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2684063 PANTHER:PTN000339788 UniProtKB:Q76L83	F	Seeded From UniProt	complete
part_of	GO:0035517	PR-DUB complex	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0261823 PANTHER:PTN000339786 UniProtKB:Q8IXJ9	C	Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2684063 PANTHER:PTN000339786	P	Seeded From UniProt	complete
colocalizes_with	GO:0005634	nucleus	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0261823 MGI:MGI:1922552 MGI:MGI:2684063 PANTHER:PTN000339786	C	Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0261823 PANTHER:PTN000339786	F	Seeded From UniProt	complete
colocalizes_with	GO:0000790	nuclear chromatin	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1922552 PANTHER:PTN000339786	C	Seeded From UniProt	complete
involved_in	GO:0060430	lung saccule development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0060348	bone development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0048872	homeostasis of number of cells	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0048539	bone marrow development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0048538	thymus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0048534	hematopoietic or lymphoid organ development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0048386	positive regulation of retinoic acid receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0045599	negative regulation of fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
enables	GO:0042975	peroxisome proliferator activated receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	F	Seeded From UniProt	complete
enables	GO:0042974	retinoic acid receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	F	Seeded From UniProt	complete
involved_in	GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0032526	response to retinoic acid	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0030097	hemopoiesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	C	Seeded From UniProt	complete
enables	GO:0003713	transcription coactivator activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	F	Seeded From UniProt	complete
involved_in	GO:0003007	heart morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
involved_in	GO:0000902	cell morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P59598 ensembl:ENSMUSP00000105413	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026905	F	Seeded From UniProt	complete
involved_in	GO:0006351	transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR007759	P	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR007759	P	Seeded From UniProt	complete
involved_in	GO:0016579	protein deubiquitination	Reactome:R-HSA-5688426	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-5690790 Reactome:R-HSA-5689630	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
involved_in	GO:0006325	chromatin organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0156	P	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Scheuermann, JC et al. (2010) Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 465 243-7 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:20436459-1] 1.0 ^1.1 Scheuermann, JC et al. (2010) Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 465 243-7 PubMed GONUTS page

[PMID:21873635-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:ASXL1

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